Disease association ontology term - MONDO:0010572 - occipital horn syndrome

Term summary

ID

MONDO:0010572

Name

occipital horn syndrome

Ontology or CV name

Disease association

Definition

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

Parents

• is_a multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
• is_a developmental anomaly of metabolic origin
• is_a disorder of copper metabolism
• is_a inherited cutis laxa

Annotation